Abstract
A recent report by the World Health Organization calls for implementation of community genetics programs in low- and middle-income countries (LMICs). Their focus is prevention of congenital disorders and genetic diseases at the population level, in addition to providing genetics services, including diagnosis and counseling. The proposed strategies include both newborn screening and population screening for carrier detection, in addition to lowering the incidence of congenital disorders and genetic diseases through the removal of environmental factors. In this article, we consider the potential impact of such testing on global health and highlight the near-term relevance of next-generation sequencing (NGS) and bioinformatic approaches to their implementation. Key attributes of NGS for community genetics programs are homogeneous approach, high multiplexing of diseases and samples, as well as rapidly falling costs of new technologies. In the near future, we estimate that appropriate use of population-specific test panels could cost as little as $10 for 10 Mendelian disorders and could have a major impact on diseases that currently affect 2% of children worldwide. However, the successful deployment of this technological innovation in LMICs will require high value for human life, thoughtful implementation, and autonomy of individual decisions, supported by appropriate genetic counseling and community education.
Highlights
A recent report by the World Health Organization calls for implementation of community genetics programs in low- and middle-income countries (LMICs)
In addition to such screening programs, the World Health Organization (WHO) calls for programs to prevent congenital disorders and genetic diseases through the removal of environmental factors
For community genetics programs in LMICs, we suggest that this sequencing capacity could be reconfigured to allow testing of approximately 1,500 individuals for up to 10 diseases
Summary
Newborn screening for preventable childhood disorders and population screening for carrier detection for common recessive diseases, when combined with genetic counseling and medical treatments, have been shown to be cost-effective and beneficial to patients and families in many countries. Given this experience, the WHO recently recommended extension of such strategies in LMICs. Hitherto, the principal obstacles to such testing of populations in LMICs have been test cost and inadequate community genetics and medical infrastruc ture to administer tests, interpret results and provide appropriate counseling and medical treatments.
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